ORPHA:90002
Undifferentiated connective tissue syndrome
Synonyms: UCTD
- Type
- Disease
- Group
- Disorder
- Status
- active
A rare systemic autoimmune disease characterized by the presence of signs and symptoms suggestive of a systemic autoimmune disease that do not fulfil the existing classification criteria. The main clinical manifestations are arthritis with arthralgia, Raynaud's phenomenon, xerostomia, xerophthalmia, and leukopenia, while neurologic or renal involvement are virtually absent.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Undifferentiated connective tissue syndrome | UCTD |
| fr | Connectivite indifférenciée | |
| de | Undifferenzierte Kollagenosen | = en |
| es | Enfermedad indiferenciada del tejido conectivo | Enfermedad del tejido conectivo no diferenciada · Síndrome del tejido conectivo no diferenciado · Síndrome indiferenciado del tejido conectivo |
| it | Connettivite indifferenziata | |
| nl | Ongedifferentieerd bindweefselsyndroom | = en |
| pt | Síndromes do tecido conjuntivo, indiferenciados | |
| pl | Zespół niezróżnicowanej tkanki łącznej | = en |
| cs | Nediferencovaný syndrom pojiva | = en |
| uk | Недиференційований синдром сполучної тканини | = en |
| zh | 未分化结缔组织综合征 | = en |
| tr | Farklılaşmamış bağ dokusu sendromu | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M35.8 | NTBT | attributed | validated |
| ICD-11 | LD28.Y | NTBT | attributed | validated |
| MONDO | 0019527 | E | validated | |
| MeSH | D000074079 | E | validated | |
| UMLS | C0409999 | E | validated | |
| MedDRA | 10071575 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:182228Systemic autoimmune disease
rare systemic and rheumatological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:251316OBSOLETE: Unclassified overlapping connective tissue disease referred to · inactive
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
3 annotations · validated 2024-02-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0034093 | Anti-Ro52/TRIM21 antibody positivity | |
| HP:0020151 | Anti-dsDNA antibody positivity | |
| HP:0034076 | Anti-ribosome Po antibody positivity | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90002
- This record as JSON: /data/d/90002.json